Detalhe da pesquisa
1.
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.
J Med Genet;
59(12): 1234-1240, 2022 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36137615
2.
Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia.
Arterioscler Thromb Vasc Biol;
41(1): e63-e71, 2021 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33207932
3.
APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants.
Int J Mol Sci;
23(8)2022 Apr 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35457099
4.
Development of a new expanded next-generation sequencing panel for genetic diseases involved in dyslipidemia.
Clin Genet;
98(6): 589-594, 2020 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33111339
5.
A new 165-SNP low-density lipoprotein cholesterol polygenic risk score based on next generation sequencing outperforms previously published scores in routine diagnostics of familial hypercholesterolemia.
Transl Res;
255: 119-127, 2023 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36528340
6.
Exome-First Strategy in Adult Patients With CKD: A Cohort Study.
Kidney Int Rep;
8(3): 596-605, 2023 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36938085
7.
New psychoactive substances in oral fluid of drivers around a music festival in south-west France in 2017.
Forensic Sci Int;
297: 265-269, 2019 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30851602
8.
LSD Detection and Interpretation in Hair.
Curr Pharm Des;
23(36): 5496-5501, 2017.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28641537